Canonical Allele Identifier: CA6616846

Gene: RDH5

Linked Data

• dbSNP Id: rs551729684
• ExAC: 12:56115634 G / A
• gnomAD v2: 12-56115634-G-A
• gnomAD v3: 12-55721850-G-A
• gnomAD v4: 12-55721850-G-A
• MyVariant Identifiers: chr12:g.56115634G>A (hg19) ; chr12:g.55721850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721850G>A , CM000674.2:g.55721850G>A	GRCh38
NC_000012.11:g.56115634G>A , CM000674.1:g.56115634G>A	GRCh37
NC_000012.10:g.54401901G>A	NCBI36
NG_008606.1:g.6484G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257895.10:c.472G>A MANE Select	ENSP00000257895.6:p.Val158Met
ENST00000257895.9:c.472G>A	ENSP00000257895.5:p.Val158Met
ENST00000257899.3:c.487G>A
ENST00000547072.5:c.181G>A	ENSP00000449927.1:p.Val61Met
ENST00000548082.1:c.472G>A	ENSP00000447128.1:p.Val158Met
ENST00000548123.1:c.300+356G>A
ENST00000548486.1:n.482G>A
ENST00000550412.5:c.*144G>A	ENSP00000447650.1:n.*144G>A
ENST00000550608.1:n.611G>A
ENST00000551946.5:c.*275G>A	ENSP00000450201.1:n.*275G>A
ENST00000553160.1:n.406-345G>A
ENST00000553187.5:n.482G>A
NM_001199771.1:c.472G>A	NP_001186700.1:p.Val158Met
NM_002905.3:c.472G>A	NP_002896.2:p.Val158Met
NR_037658.1:n.531G>A
NM_001199771.2:c.472G>A	NP_001186700.1:p.Val158Met
NM_002905.5:c.472G>A MANE Select	NP_002896.2:p.Val158Met
NM_001199771.3:c.472G>A	NP_001186700.1:p.Val158Met